The Genomic Technology Group
The Genomic Technology Group creates technologies that improve the application of massively parallel sequencing (MPS) to large-scale genomic analysis projects, such as those conducted by GEL.
Our Hi-Plex technology for high-throughput targeted mutation screening, supported by accessory design and analysis software, is field-leading in terms of cost, simplicity and accuracy.
Recent derivatives of Hi-Plex allow us to trace sequence signals to their originating DNA templates - in turn, enabling unprecedented accuracy for detecting 'lowly-represented' genetic variants, such as those occurring in cancer sub-clones, via other somatic events or in pooled DNA specimens. The latter is particularly relevant to GEL, making feasible extremely efficient gene-panel mutation screening approaches.
Shortly, we will demonstrate disruptive new technology for targeted sequencing-based methylation profiling, 'Methyl-Hi-Plex'. This is projected to have widespread applications in cancer risk, diagnosis and treatment selection and is directly applicable to a number of GEL's current cancer epigenetic association studies.
Our FAVR software (Filtering and Annotation of Variants that are Rare) takes an orthogonal approach to artefact removal from MPS datasets, complementing and improving on conventional filtering methods. FAVR was instrumental in our discoveries of XRCC2 and RINT1 as strong candidate cancer susceptibility genes and continues to be an important element in GEL's analysis pipelines.
Future versions of FAVR will increase the level of sophistication around the particularly problematic area of indel (insertion/deletion) calling.
Our Annokey software facilitates the shortlisting of candidates in disease gene discovery efforts, for example, via automated querying of the Entrez Gene database using ranked search key terms . Annokey contributed to our identification of RINT1 as a likely cancer susceptibility gene and is regularly used in GEL's analyses.